ClinVar

NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)

Gene:

PPP2R1A:protein phosphatase 2 scaffold subunit Aalpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

• Chr19: 52212730 (on Assembly GRCh38)
• Chr19: 52715983 (on Assembly GRCh37)

Preferred name:

NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)

HGVS:

• NC_000019.10:g.52212730G>A
• NG_047068.1:g.27929G>A
• NM_001363656.2:c.11G>A
• NM_014225.6:c.548G>AMANE SELECT
• NP_001350585.1:p.Arg4Gln
• NP_055040.2:p.Arg183Gln
• NC_000019.9:g.52715983G>A
• NM_014225.5:c.548G>A
• NR_033500.2:n.492G>A

This HGVS expression did not pass validation

Protein change:

R183Q

Links:

dbSNP: rs1057519947

NCBI 1000 Genomes Browser:

rs1057519947

Molecular consequence:

• NM_001363656.2:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014225.6:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_033500.2:n.492G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]